{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA346956",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1154,
          "referenceAllele": "K",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "NP_056327.4:p.Lys1154Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA346955",
          "hgvs": "NM_015512.5:c.3460A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174609"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205551[alleleid]",
        "alleleId": 205551,
        "preferredName": "NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/209005",
        "RCV": [
          "RCV000190948",
          "RCV000495957",
          "RCV003765209"
        ],
        "variationId": 209005
      }
    ]
  },
  "type": "amino-acid"
}